[When all roads lead to Africa…]

J Andoni Urtizberea 1, Hadil Alrohaif 2, Sayed A Gouda 2, Laila Bastaki 2

Affiliations

01 November 2019

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doi: 10.1051/medsci/2019237

Abstract

in English, French

Congenital myopathies represent a quite heterogeneous group of neuromuscular disorders both at the clinical and genetic level. High-throughput sequencing (NGS), targeted or not, combined with muscle pathology, greatly facilitate their accurate characterization and occasionally lead to unexpected discoveries like in the case reported here in a Kuwaiti family facing a long diagnostic odyssey.

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References

https://pubmed.ncbi.nlm.nih.gov/

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